Paralogue Annotation for CACNA1C residue 1219

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1219
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1219

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AQ1531KSeizures, benign infantileMedium9 25982755

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.



CACNA1CP-------LRRYIPK--NQHQYKVWYVVNS>T<YFEYLMFVLILLNTICLAMQHYGQSCLFKI1249
CACNA1AP-------LTRHMPQNKQSFQYRMWQFVVS>P<PFEYTIMAMIALNTIVLMMKFYGASVAYEN1596
CACNA1BP-------LTRYMPQNRQSFQYKTWTFVVS>P<PFEYFIMAMIALNTVVLMMKFYDAPYEYEL1502
CACNA1DP-------LRRYIPK--NPYQYKFWYVVNS>S<PFEYMMFVLIMLNTLCLAMQHYEQSKMFND1255
CACNA1EP-------LTRYMPQNRHTFQYRVWHFVVS>P<SFEYTIMAMIALNTVVLMMKYYSAPCTYEL1508
CACNA1FP-------LRRYIPK--NPHQYRVWATVNS>A<AFEYLMFLLILLNTVALAMQHYEQTAPFNY1220
CACNA1GSASAASEAQCKPYYSDYSRFRLLVHHLCTS>H<YLDLFITGVIGLNVVTMAMEHYQQPQILDE1641
CACNA1H---------RRPYYADYSPTRRSIHSLCTS>H<YLDLFITFIICVNVITMSMEHYNQPKSLDE1647
CACNA1I---------RLPYYATYCHTRLLIHSMCTS>H<YLDIFITFIICLNVVTMSLEHYNQPTSLET1517
CACNA1SP-------LRCYIPK--NPYQYQVWYIVTS>S<YFEYLMFALIMLNTICLGMQHYNQSEQMNH1148
SCN10AP--------QKPIPRPLNKFQGFVFDIVTR>Q<AFDITIMVLICLNMITMMVETDDQSEEKTK1506
SCN11AP--------QKPIPRPLNKCQGLVFDIVTS>Q<IFDIIIISLIILNMISMMAESYNQPKAMKS1396
SCN1AP--------QKPIPRPGNKFQGMVFDFVTR>Q<VFDISIMILICLNMVTMMVETDDQSEYVTT1571
SCN2AP--------QKPIPRPANKFQGMVFDFVTK>Q<VFDISIMILICLNMVTMMVETDDQSQEMTN1561
SCN3AP--------QKPIPRPANKFQGMVFDFVTR>Q<VFDISIMILICLNMVTMMVETDDQGKYMTL1556
SCN4AP--------QKPIPRPQNKIQGMVYDLVTK>Q<AFDITIMILICLNMVTMMVETDNQSQLKVD1383
SCN5AP--------QKPIPRPLNKYQGFIFDIVTK>Q<AFDVTIMFLICLNMVTMMVETDDQSPEKIN1558
SCN7AS--------QRPVPRPLNKLQGFIFDVVTS>Q<AFNVIVMVLICFQAIAMMIDTDVQSLQMSI1281
SCN8AP--------QKPIPRPLNKIQGIVFDFVTQ>Q<AFDIVIMMLICLNMVTMMVETDTQSKQMEN1552
SCN9AP--------QKPIPRPGNKIQGCIFDLVTN>Q<AFDISIMVLICLNMVTMMVEKEGQSQHMTE1534
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1219 for CACNA1C.